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Br J Dermatol. 2014 Apr;170(4):980-2. doi: 10.1111/bjd.12757.

Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

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1
Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
PMID:
24344921
DOI:
10.1111/bjd.12757
[Indexed for MEDLINE]
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